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Entry version 198 (31 Jul 2019)
Sequence version 2 (16 Aug 2004)
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Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1

Gene

SMARCB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1.By similarity6 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Chromatin regulator, DNA-binding
Biological processCell cycle, Host-virus interaction, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

SIGNOR Signaling Network Open Resource

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SIGNORi
Q12824

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Alternative name(s):
BRG1-associated factor 47
Short name:
BAF47
Integrase interactor 1 protein
SNF5 homolog
Short name:
hSNF5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SMARCB1
Synonyms:BAF47, INI1, SNF5L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:11103 SMARCB1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601607 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q12824

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Rhabdoid tumor predisposition syndrome 1 (RTPS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
Related information in OMIM
Schwannomatosis 1 (SWNTS1)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves.
Related information in OMIM
Coffin-Siris syndrome 3 (CSS3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08026337R → H in CSS3; patient with original diagnosis of Kleefstra syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122368EnsemblClinVar.1
Natural variantiVAR_068178364Missing in CSS3. 1 Publication1
Natural variantiVAR_076934366R → C in CSS3. 1 PublicationCorresponds to variant dbSNP:rs886039520EnsemblClinVar.1
Natural variantiVAR_076935374R → Q in CSS3. 1 PublicationCorresponds to variant dbSNP:rs1057517825EnsemblClinVar.1
Natural variantiVAR_068179377R → H in CSS3. 1 PublicationCorresponds to variant dbSNP:rs387906812EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hypotrichosis, Mental retardation, Tumor suppressor

Organism-specific databases

DisGeNET

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DisGeNETi
6598

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SMARCB1

MalaCards human disease database

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MalaCardsi
SMARCB1
MIMi162091 phenotype
609322 phenotype
614608 phenotype

Open Targets

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OpenTargetsi
ENSG00000099956

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
99966 Atypical teratoid rhabdoid tumor
1465 Coffin-Siris syndrome
263662 Familial multiple meningioma
231108 Familial rhabdoid tumor
93921 Neurofibromatosis type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35953

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SMARCB1

Domain mapping of disease mutations (DMDM)

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DMDMi
51338799

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002059481 – 385SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1Add BLAST385

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki106Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki108Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki124Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei129PhosphoserineCombined sources1
Cross-linki161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q12824

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q12824

MaxQB - The MaxQuant DataBase

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MaxQBi
Q12824

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q12824

PeptideAtlas

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PeptideAtlasi
Q12824

PRoteomics IDEntifications database

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PRIDEi
Q12824

ProteomicsDB human proteome resource

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ProteomicsDBi
58970 [Q12824-1]
58971 [Q12824-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q12824

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q12824

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000099956 Expressed in 221 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q12824 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12824 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB009196
HPA018248
HPA019127

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (Probable).

Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:8895581, PubMed:18765789).

Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin.

Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity).

Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:26601204). Binds to double-stranded DNA.

Interacts with CEBPB (when not methylated) (PubMed:20111005).

Interacts with PIH1D1 (PubMed:22368283).

Interacts with MYK and MAEL (PubMed:10319872).

Interacts with PPP1R15A (PubMed:10490642, PubMed:12016208).

Interacts with DPF2 (PubMed:20460684).

Interacts with YWHAZ (PubMed:16959763).

2 PublicationsBy similarity9 Publications

(Microbial infection) Binds tightly to the human immunodeficiency virus-type 1 (HIV-1) integrase in vitro and stimulates its DNA-joining activity.

Interacts with human papillomavirus 18 E1 protein to stimulate its viral replication (PubMed:10365963).

Interacts with Epstein-Barr virus protein EBNA-2 (PubMed:8709224).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112482, 205 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1164 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1194 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1195 Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex
CPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant
CPX-1199 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant
CPX-1201 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
CPX-1205 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1213 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
CPX-1223 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q12824

Database of interacting proteins

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DIPi
DIP-27550N

Protein interaction database and analysis system

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IntActi
Q12824, 189 interactors

Molecular INTeraction database

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MINTi
Q12824

STRING: functional protein association networks

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STRINGi
9606.ENSP00000263121

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1385
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q12824

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati186 – 2451Add BLAST60
Repeati259 – 3192Add BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 113DNA-binding1 PublicationAdd BLAST113
Regioni183 – 243HIV-1 integrase-bindingAdd BLAST61
Regioni186 – 3192 X approximate tandem repeatsAdd BLAST134
Regioni186 – 245MYC-binding1 PublicationAdd BLAST60
Regioni304 – 318Interaction with PPP1R15A1 PublicationAdd BLAST15

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminal DNA-binding region is structurally similar to winged helix domains.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SNF5 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1649 Eukaryota
ENOG410XSZD LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00440000038585

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000015760

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12824

KEGG Orthology (KO)

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KOi
K11648

Database of Orthologous Groups

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OrthoDBi
1214165at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q12824

TreeFam database of animal gene trees

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TreeFami
TF105993

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017393 Sfh1/SNF5
IPR006939 SNF5

The PANTHER Classification System

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PANTHERi
PTHR10019 PTHR10019, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF04855 SNF5, 2 hits

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF038126 SWI_SNF, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q12824-1) [UniParc]FASTAAdd to basket
Also known as: INI1A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MMMMALSKTF GQKPVKFQLE DDGEFYMIGS EVGNYLRMFR GSLYKRYPSL
60 70 80 90 100
WRRLATVEER KKIVASSHGK KTKPNTKDHG YTTLATSVTL LKASEVEEIL
110 120 130 140 150
DGNDEKYKAV SISTEPPTYL REQKAKRNSQ WVPTLPNSSH HLDAVPCSTT
160 170 180 190 200
INRNRMGRDK KRTFPLCFDD HDPAVIHENA SQPEVLVPIR LDMEIDGQKL
210 220 230 240 250
RDAFTWNMNE KLMTPEMFSE ILCDDLDLNP LTFVPAIASA IRQQIESYPT
260 270 280 290 300
DSILEDQSDQ RVIIKLNIHV GNISLVDQFE WDMSEKENSP EKFALKLCSE
310 320 330 340 350
LGLGGEFVTT IAYSIRGQLS WHQKTYAFSE NPLPTVEIAI RNTGDADQWC
360 370 380
PLLETLTDAE MEKKIRDQDR NTRRMRRLAN TAPAW
Length:385
Mass (Da):44,141
Last modified:August 16, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB7BCA26875BD943D
GO
Isoform B (identifier: Q12824-2) [UniParc]FASTAAdd to basket
Also known as: INI1B

The sequence of this isoform differs from the canonical sequence as follows:
     69-77: Missing.

Show »
Length:376
Mass (Da):43,158
Checksum:i6C7233EAFBC389A9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5E975G5E975_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1 hCG_41099
394Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JTA6C9JTA6_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1
248Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RRB8A0A0U1RRB8_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RQQ2A0A0U1RQQ2_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B5MCL5B5MCL5_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JRV3A0A0G2JRV3_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1
339Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JSE9A0A0G2JSE9_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1
227Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5N5A0A2R8Y5N5_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1
271Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEE8A0A2R8YEE8_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1
216Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDN6A0A2R8YDN6_HUMAN
SWI/SNF-related matrix-associated a...
SMARCB1
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti136P → S (PubMed:7801128).Curated1
Sequence conflicti136P → S in CAA76639 (PubMed:9671307).Curated1
Sequence conflicti378L → E in CAA76639 (PubMed:9671307).Curated1
Sequence conflicti382A → G (PubMed:7801128).Curated1
Sequence conflicti382A → G in CAA76639 (PubMed:9671307).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08026337R → H in CSS3; patient with original diagnosis of Kleefstra syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122368EnsemblClinVar.1
Natural variantiVAR_068178364Missing in CSS3. 1 Publication1
Natural variantiVAR_076934366R → C in CSS3. 1 PublicationCorresponds to variant dbSNP:rs886039520EnsemblClinVar.1
Natural variantiVAR_076935374R → Q in CSS3. 1 PublicationCorresponds to variant dbSNP:rs1057517825EnsemblClinVar.1
Natural variantiVAR_068179377R → H in CSS3. 1 PublicationCorresponds to variant dbSNP:rs387906812EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00439969 – 77Missing in isoform B. 4 Publications9

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U04847 mRNA Translation: AAA81905.1
Y17118
, Y17119, Y17120, Y17121, Y17122, Y17123, Y17124, Y17125, Y17126 Genomic DNA Translation: CAA76639.1 Sequence problems.
AJ011738 mRNA Translation: CAA09759.1
AJ011737 mRNA Translation: CAA09758.1
AB017523 mRNA Translation: BAC77068.1
CR456581 mRNA Translation: CAG30467.1
AK021419 mRNA Translation: BAG51033.1
DQ230988 Genomic DNA Translation: ABB02184.1
CH471095 Genomic DNA Translation: EAW59606.1
BC117114 mRNA Translation: AAI17115.1
BC143667 mRNA Translation: AAI43668.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13817.1 [Q12824-1]
CCDS46671.1 [Q12824-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
S54705

NCBI Reference Sequences

More...
RefSeqi
NP_001007469.1, NM_001007468.2 [Q12824-2]
NP_003064.2, NM_003073.4 [Q12824-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000407422; ENSP00000383984; ENSG00000099956 [Q12824-2]
ENST00000618915; ENSP00000479330; ENSG00000275837 [Q12824-1]
ENST00000631333; ENSP00000486870; ENSG00000275837 [Q12824-2]
ENST00000644036; ENSP00000494049; ENSG00000099956 [Q12824-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6598

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6598

UCSC genome browser

More...
UCSCi
uc002zyb.4 human [Q12824-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U04847 mRNA Translation: AAA81905.1
Y17118
, Y17119, Y17120, Y17121, Y17122, Y17123, Y17124, Y17125, Y17126 Genomic DNA Translation: CAA76639.1 Sequence problems.
AJ011738 mRNA Translation: CAA09759.1
AJ011737 mRNA Translation: CAA09758.1
AB017523 mRNA Translation: BAC77068.1
CR456581 mRNA Translation: CAG30467.1
AK021419 mRNA Translation: BAG51033.1
DQ230988 Genomic DNA Translation: ABB02184.1
CH471095 Genomic DNA Translation: EAW59606.1
BC117114 mRNA Translation: AAI17115.1
BC143667 mRNA Translation: AAI43668.1
CCDSiCCDS13817.1 [Q12824-1]
CCDS46671.1 [Q12824-2]
PIRiS54705
RefSeqiNP_001007469.1, NM_001007468.2 [Q12824-2]
NP_003064.2, NM_003073.4 [Q12824-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5AJ1NMR-A2-113[»]
5GJKX-ray2.05B183-249[»]
5L7AX-ray2.10A/B/C/D184-252[»]
5L7BNMR-A184-258[»]
6AX5NMR-A183-265[»]
SMRiQ12824
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112482, 205 interactors
ComplexPortaliCPX-1164 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1194 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant
CPX-1195 Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex
CPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant
CPX-1199 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant
CPX-1201 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant
CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
CPX-1205 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CPX-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1213 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant
CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant
CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant
CPX-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant
CPX-1223 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant
CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant
CPX-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant
CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant
CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant
CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant
CORUMiQ12824
DIPiDIP-27550N
IntActiQ12824, 189 interactors
MINTiQ12824
STRINGi9606.ENSP00000263121

PTM databases

iPTMnetiQ12824
PhosphoSitePlusiQ12824

Polymorphism and mutation databases

BioMutaiSMARCB1
DMDMi51338799

Proteomic databases

EPDiQ12824
jPOSTiQ12824
MaxQBiQ12824
PaxDbiQ12824
PeptideAtlasiQ12824
PRIDEiQ12824
ProteomicsDBi58970 [Q12824-1]
58971 [Q12824-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6598
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000407422; ENSP00000383984; ENSG00000099956 [Q12824-2]
ENST00000618915; ENSP00000479330; ENSG00000275837 [Q12824-1]
ENST00000631333; ENSP00000486870; ENSG00000275837 [Q12824-2]
ENST00000644036; ENSP00000494049; ENSG00000099956 [Q12824-1]
GeneIDi6598
KEGGihsa:6598
UCSCiuc002zyb.4 human [Q12824-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6598
DisGeNETi6598

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SMARCB1
GeneReviewsiSMARCB1
HGNCiHGNC:11103 SMARCB1
HPAiCAB009196
HPA018248
HPA019127
MalaCardsiSMARCB1
MIMi162091 phenotype
601607 gene
609322 phenotype
614608 phenotype
neXtProtiNX_Q12824
OpenTargetsiENSG00000099956
Orphaneti99966 Atypical teratoid rhabdoid tumor
1465 Coffin-Siris syndrome
263662 Familial multiple meningioma
231108 Familial rhabdoid tumor
93921 Neurofibromatosis type 3
PharmGKBiPA35953

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1649 Eukaryota
ENOG410XSZD LUCA
GeneTreeiENSGT00440000038585
HOGENOMiHOG000015760
InParanoidiQ12824
KOiK11648
OrthoDBi1214165at2759
PhylomeDBiQ12824
TreeFamiTF105993

Enzyme and pathway databases

ReactomeiR-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
SIGNORiQ12824

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SMARCB1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SMARCB1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6598

Protein Ontology

More...
PROi
PR:Q12824

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000099956 Expressed in 221 organ(s), highest expression level in testis
ExpressionAtlasiQ12824 baseline and differential
GenevisibleiQ12824 HS

Family and domain databases

InterProiView protein in InterPro
IPR017393 Sfh1/SNF5
IPR006939 SNF5
PANTHERiPTHR10019 PTHR10019, 1 hit
PfamiView protein in Pfam
PF04855 SNF5, 2 hits
PIRSFiPIRSF038126 SWI_SNF, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSNF5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12824
Secondary accession number(s): O75784
, O95474, Q17S11, Q38GA1, Q76N08, Q9UBH2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 16, 2004
Last modified: July 31, 2019
This is version 198 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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